Variant report

Variant	rs56965161
Chromosome Location	chr4:22488485-22488486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22487490..22489243-chr4:22491775..22493390,2	K562	blood:
2	chr4:22488399..22490950-chr4:22493521..22495053,2	MCF-7	breast:
3	chr4:22487743..22489336-chr4:22491654..22493275,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11932316	1.00[AMR][1000 genomes]
rs56029242	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56383378	0.80[AFR][1000 genomes]
rs58098085	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61574687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61793366	0.93[AFR][1000 genomes]
rs61793367	0.93[AFR][1000 genomes]
rs6812519	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73800963	0.80[AFR][1000 genomes]
rs73802816	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802817	1.00[AMR][1000 genomes]
rs73802819	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802821	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802824	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802827	0.83[AFR][1000 genomes]
rs73802829	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802831	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802835	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802836	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666972	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:22475000-22489400	Weak transcription	Lung	lung
4	chr4:22477800-22489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:22482200-22488800	Enhancers	HMEC	breast
6	chr4:22484000-22488600	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:22484200-22488800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:22484200-22488800	Enhancers	NH-A	brain
9	chr4:22484200-22489400	Enhancers	HSMMtube	muscle
10	chr4:22484200-22490400	Enhancers	Fetal Muscle Leg	muscle
11	chr4:22484400-22489000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:22484600-22489400	Enhancers	Fetal Lung	lung
13	chr4:22484800-22488600	Enhancers	NHDF-Ad	bronchial
14	chr4:22484800-22489000	Weak transcription	Right Atrium	heart
15	chr4:22484800-22492400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:22484800-22493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:22484800-22498400	Weak transcription	Gastric	stomach
18	chr4:22485000-22488600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:22485000-22489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:22485000-22490200	Enhancers	Colon Smooth Muscle	Colon
21	chr4:22485000-22492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
23	chr4:22485200-22489400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:22485400-22492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:22485600-22488600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:22485600-22489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:22485600-22489600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:22485600-22492400	Weak transcription	Liver	Liver
29	chr4:22485600-22493200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:22485600-22501400	Weak transcription	Hela-S3	cervix
31	chr4:22485600-22502000	Weak transcription	A549	lung
32	chr4:22485800-22491600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:22486000-22489200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:22486200-22489400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:22486200-22489400	Enhancers	Fetal Stomach	stomach
36	chr4:22486400-22500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:22486600-22488800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:22486600-22489000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:22486600-22489600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:22486600-22492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:22486600-22492200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:22486600-22492400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:22486800-22488800	Enhancers	NHEK	skin
44	chr4:22486800-22489000	Weak transcription	Fetal Brain Male	brain
45	chr4:22486800-22490200	Enhancers	Left Ventricle	heart
46	chr4:22486800-22490200	Enhancers	Psoas Muscle	Psoas
47	chr4:22486800-22492400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:22487000-22488800	Enhancers	NHLF	lung
49	chr4:22487000-22489000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:22487000-22489600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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